Table 7.
Gene | dbSNP [6] rel. 147 or see [Ref] | 5′ flank |
wt
mut |
3′ flank | KD, nM | hypothetical disease (candidate SNP markers) | [this work], [Ref] | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
wt
mut |
Δ | Z | α | ρ | |||||||
AR | rs763353257 | aagggaagta |
g
- |
gtggaagatt |
30
21 |
↑ | 6 | 10-6 | A | (hypothetically) higher risks of androgenetic alopecia and androgen-induced premature senescence in adult men | [251] |
rs749306567 | aagggaagta |
g
a |
gtggaagatt |
30
15 |
↑ | 11 | 10-6 | A | |||
rs377711437 | cagcactgca |
g
a |
ccacgacccg |
75
66 |
↑ | 2 | 0.05 | D | |||
MTHFR | rs780207553 | cacgcactct |
g
a |
ggcctgagct |
74
38 |
↑ | 12 | 10-6 | A | (hypothetically) higher risk of pre-eclampsia | [252] |
rs749532075 | tccctcccca |
c
t*) |
gcactctggg |
74
50 |
↑ | 7 | 10-6 | A | |||
rs771960561 | cctctgttcc |
c
t |
tccccacgca |
74
66 |
↑ | 3 | 10-2 | B | |||
rs773214376 | tgcctctgtt |
c
t |
cctccccacg |
74
66 |
↑ | 2 | 0.05 | D | |||
rs566478202 | ggtgcctctg |
t
g |
tccctcccca |
74
85 |
↓ | 2 | 0.05 | D | (hypothetically) higher risk of adverse pregnancy outcomes | [253] | |
rs752181249 | gaggatctac |
a
c |
gccatcagct |
27
35 |
↓ | 4 | 10-3 | B | |||
DNMT1 | rs570287204 | gtgggggggg |
-
gtg |
tgtgtgcccg |
52
23 |
↑ | 11 | 10-6 | A | (hypothetically) under stress, higher risk of epigenetic disorders of fetal and newborn brain development causing long-term neurobehavioral problems that may be reversible in adolescence | [254, 255] |
rs534819409 | cgtggggggg |
g
t |
ggcctgagct |
52
30 |
↑ | 7 | 10-6 | A | |||
rs553454792 | gcgtgggggg |
g
t |
gtgtgtgccc |
52
23 |
↑ | 11 | 10-6 | A | |||
rs558447661 | cgtggagctt |
g
t |
gacgagccca |
72
29 |
↑ | 15 | 10-6 | A | |||
rs535899986 | cccagcaaac |
c
t |
gtggagcttg |
72
58 |
↑ | 5 | 10-3 | B | |||
rs143796354 | cacctcccag |
c
a |
aaaccgtgga |
72
26 |
↑ | 20 | 10-6 | A | |||
rs756103340 | gcggcgcgca |
g
a |
cggcagttgg |
92
79 |
↑ | 3 | 10-3 | B | |||
rs758026532 | ccagcaaacc |
g
t*) |
tggagcttgg |
72
88 |
↓ | 4 | 10-3 | B | (hypothetically) higher risks of activation of protooncogenes in cancer | [256] | |
rs772821225 | gtctccaata |
a
c |
atgcagctgg |
7
8 |
↓ | 2 | 0.05 | D | |||
CYP17A1 | rs758657961 | ctggagttga |
g
a |
ccagcccttg |
56
30 |
↑ | 11 | 10-6 | A | (hypothetically) higher risk of hyperandrogenism in polycystic ovary syndrome | [257] |
rs373488849 | tgccctggag |
t
c |
tgagccagcc |
56
70 |
↓ | 4 | 10-3 | B | (hypothetically) higher risk of fertility impairments | [258] | |
NR5A1 | rs147497093 | gttcagcaag |
c
t |
acaagagaaa |
19
6 |
↑ | 17 | 10-6 | A | (hypothetically) higher risks of adrenal tumors and endometriosis | [259] |
rs535432539 | cgctgcttcc |
g
a |
cttcgtaagt |
31
18 |
↑ | 9 | 10-6 | A | |||
rs553326158 | gcgctgcttc |
c
t |
gcttcgtaag |
31
26 |
↑ | 3 | 10-2 | C | |||
rs143242438 | caccctcatc |
c
t |
ggtgtgagag |
31
21 |
↑ | 6 | 10-6 | A |
See the footnote of Table 1; *)this SNP includes one more minor neutral allele: “a.”